Association of Newborn Telomere Length With Blood Pressure in Childhood.
Martens Dries S et al. JAMA network open 2022 8 (8) e2225521
In this birth cohort study including 485 newborns, participants with a longer birth TL had a significantly lower diastolic and mean arterial pressure at the age of 4 to 6 years. Furthermore, longer newborn TL was significantly associated with lower odds of having high childhood blood pressure. These results suggest that TL at birth associates with early life vascular health and that newborn TL may be a programmed molecular mediator containing genetic and prenatal environmental exposure information contributing to vascular health later in life.
Association of Genetic Variant Linked to Hemochromatosis With Brain Magnetic Resonance Imaging Measures of Iron and Movement Disorders.
Loughnan Robert et al. JAMA neurology 2022 8
In this cross-sectional study that included 836 participants, we found that individuals at high genetic risk for developing hemochromatosis had magnetic resonance imaging scans indicating substantial iron deposition localized to motor circuits of the brain. Further analysis of data for 488?288 individuals revealed that male individuals with high genetic risk for hemochromatosis (but not female individuals) were at 1.80-fold increased risk for developing a movement disorder, with the majority of these individuals not having a concurrent diagnosis for hemochromatosis.
Joint Genetic Inhibition of PCSK9 and CETP and the Association With Coronary Artery Disease: A Factorial Mendelian Randomization Study.
Cupido Arjen J et al. JAMA cardiology 2022 8
In this cohort study, a 2?×?2 factorial Mendelian randomization study including 425?354 participants from the UK Biobank, an additive association of a genetically reduced combined concentration of CETP and PCSK9 was found for lipid levels and risk of coronary artery disease, while the association of CETP with age-related macular degeneration was not mitigated. Our findings suggest that joint inhibition of CETP and PCSK9 has additive effects on lipid concentrations and clinical outcomes.
Universal screening for familial hypercholesterolemia in 2 populations.
Sustar Ursa et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 8
In Europe, >2 million individuals with familial hypercholesterolemia (FH) are currently undiagnosed. Effective screening strategies for FH diagnosis in childhood are urgently needed. We assessed the overall performances of 2 different FH screening programs in children: universal screening program with opt-out and opt-in type participation. Our study suggests that universal 3-step FH screening approach in children enabled detection of most children and their parents in every generation screened at reasonable costs. Opt-out screening strategy might be preferable over opt-in screening strategy.
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